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用多聚酶链式反应－单链构象多态性方法分析了２例经尸检诊断为囊性纤维化病患者的石蜡包埋组织ＤＮＡ和３例汗液钠离子浓度偏高患儿外周血细胞ＤＮＡ。结果在一例尸检病例发现第２外显子区域约３０大碱基对的缺失，另一例疑诊患儿第１２外显子两侧内含子可能存在ＤＮＡ变异。
Polymerase chain reaction - single strand conformation polymorphism was used to analyze the DNA of peripheral blood cells in 2 cases of cystic fibrosis patients diagnosed by paraffin - embedded tissue DNA and 3 cases of high sodium ion concentration. Results In a case of autopsy, about 30 base pairs of exons in exon 2 were found to be missing. In another case, there was DNA variation in both introns of exon 12.